view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEC63_chr6_107862756_107963208 | 107863559 | T | TGCGCGCG others(15): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0133 | 1 | 145 | 0.0069 | 22 | c.*81 others(33): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 4196 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107877071 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0281 | 1 | 261 | 0.0038 | 22 | c.193 others(39): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 18/20 | chr6 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 48993100 | A | AGAGAGTG others(15): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 209 | 0.0048 | 22 | c.262 others(39): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 17/17 | chr15 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 49010124 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG02559.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0002a0002c0002t0004 | a0001c0001t0011g0096 a0001c0001t0011g0098 a0002c0002t0002g0103 others(5): Show |
8 | 147 | 0.0544 | 22 | c.186 others(39): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 13/17 | chr15 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939035 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 248 | 0.0040 | 22 | c.115 others(39): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13983023 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 8 | 0.1250 | 22 | c.58+ others(37): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 1/19 | chr20 | TogoVar | |||||||
SEL1L_chr14_81466547_81538853 | 81510514 | C | CTCTATAT others(15): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 125 | 0.0080 | 22 | c.341 others(39): Show |
SEL1L | ENSG00000071537.14 | transcript | ENST00000336735.9 | protein_coding | 3/20 | chr14 | TogoVar | |||||||
SELENBP1_chr1_151359304_151377705 | 151360296 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 |
2 | 186 | 0.0108 | 22 | c.*42 others(33): Show |
SELENBP1 | ENSG00000143416.21 | transcript | ENST00000368868.10 | protein_coding | 4007 | chr1 | TogoVar | |||||||
SELENBP1_chr1_151359304_151377705 | 151367355 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02615.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0001 | a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0069 others(7): Show |
14 | 94 | 0.1489 | 22 | c.482 others(37): Show |
SELENBP1 | ENSG00000143416.21 | transcript | ENST00000368868.10 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25819429 | T | TGTGAGAG others(15): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0113 | 1 | 41 | 0.0244 | 22 | c.*37 others(33): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 1209 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SELENON_chr1_25795193_25823221 | 25819429 | T | TGTGTGTG others(15): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0009 | 1 | 41 | 0.0244 | 22 | c.*37 others(33): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 1209 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SELENOT_chr3_150598321_150635436 | 150631202 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 HG03490.hp2 NA18941.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0002 a0001c0001t0002g0043 a0001c0001t0002g0048 others(5): Show |
9 | 39 | 0.2308 | 22 | c.*35 others(33): Show |
SELENOT | ENSG00000198843.14 | transcript | ENST00000471696.6 | protein_coding | 767 | chr3 | TogoVar | |||||||
SELP_chr1_169583849_169635124 | 169603305 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0241 | 1 | 307 | 0.0033 | 22 | c.152 others(37): Show |
SELP | ENSG00000174175.17 | transcript | ENST00000263686.11 | protein_coding | 9/16 | chr1 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83965666 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 121 | 0.0083 | 22 | c.171 others(41): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83980603 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0015 | 1 | 254 | 0.0039 | 22 | c.165 others(39): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83980623 | A | ACAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0223 a0001c0001t0004g0250 |
2 | 84 | 0.0238 | 22 | c.165 others(39): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83980623 | A | ACAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 a0001c0001t0004g0218 a0001c0001t0004g0245 |
3 | 85 | 0.0353 | 22 | c.165 others(39): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84086712 | A | ATATGTAT others(15): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0159 | 1 | 274 | 0.0036 | 22 | c.453 others(41): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84095329 | T | TATATAAT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(83): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0039 others(83): Show |
86 | 274 | 0.3139 | 22 | c.453 others(41): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84095358 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02818.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0024 | a0001c0001t0001g0239 a0001c0001t0004g0008 a0001c0001t0024g0212 |
3 | 161 | 0.0186 | 22 | c.453 others(41): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84095358 | C | CACATATA others(15): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03239.hp1 NA18522.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0009a0001c0003t0006a0001c0004t0005others(2): Show | a0001c0001t0009g0165 a0001c0003t0006g0222 a0001c0004t0005g0118 others(3): Show |
6 | 164 | 0.0366 | 22 | c.453 others(41): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80746718 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02040.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0227 |
2 | 19 | 0.1053 | 22 | c.184 others(41): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 17/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80754944 | A | ATTGTTTT others(15): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0001 | 1 | 242 | 0.0041 | 22 | c.164 others(41): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 15/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80754947 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 242 | 0.0041 | 22 | c.164 others(41): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 15/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80754957 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03654.hp1 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0001a0001c0017t0003 | a0001c0002t0001g0157 a0001c0017t0003g0093 |
2 | 195 | 0.0103 | 22 | c.164 others(41): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 15/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80754957 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02630.hp2 HG02717.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0004a0003c0011t0004 | a0001c0001t0001g0169 a0001c0001t0004g0092 a0003c0011t0004g0043 others(2): Show |
5 | 198 | 0.0253 | 22 | c.164 others(41): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 15/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80754957 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01099.hp2 others(26): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0032 others(26): Show |
29 | 222 | 0.1306 | 22 | c.164 others(41): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 15/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80754966 | T | TTTTGTTT others(15): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0140 | 1 | 164 | 0.0061 | 22 | c.164 others(41): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 15/17 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85066892 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03041.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0048 | a0001c0001t0005g0041 a0001c0001t0005g0072 a0001c0001t0048g0266 |
3 | 238 | 0.0126 | 22 | c.589 others(39): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 7/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85066913 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071 | 1 | 118 | 0.0085 | 22 | c.589 others(39): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 7/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85066913 | C | CATACACA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0010 | a0001c0001t0001g0143 a0002c0003t0010g0213 |
2 | 119 | 0.0168 | 22 | c.589 others(39): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 7/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85066913 | C | CATACACA others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02258.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(8): Show | a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0144 others(15): Show |
18 | 135 | 0.1333 | 22 | c.589 others(39): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 7/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85066913 | C | CATACACA others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02622.hp1 others(1): Show |
a0001a0008 | a0001c0001a0001c0010a0008c0015 | a0001c0001t0001a0001c0010t0004a0008c0015t0002 | a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0010t0004g0185 others(1): Show |
4 | 121 | 0.0331 | 22 | c.589 others(39): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 7/18 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83460624 | T | TCCTTCAC others(15): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0012 | a0002c0012t0038 | a0002c0012t0038g0019 | 1 | 224 | 0.0045 | 22 | c.456 others(39): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83516855 | G | GGAAACTA others(15): Show |
intron_variant | MODIFIER | HG02886.hp2 NA21309.hp2 |
a0001 | a0001c0005 | a0001c0005t0014a0001c0005t0033 | a0001c0005t0014g0027 a0001c0005t0033g0014 |
2 | 224 | 0.0089 | 22 | c.116 others(41): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83539855 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0194 | 1 | 76 | 0.0132 | 22 | c.116 others(41): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89461700 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18974.hp2 NA19002.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0004 | a0001c0001t0003g0201 a0001c0004t0004g0185 a0001c0004t0004g0189 others(2): Show |
5 | 130 | 0.0385 | 22 | c.-30 others(41): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9088637 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0060 | 1 | 90 | 0.0111 | 22 | c.207 others(43): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 16/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9088659 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0005 | a0005c0020 | a0005c0020t0071 | a0005c0020t0071g0108 | 1 | 82 | 0.0122 | 22 | c.207 others(43): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 16/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9154093 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01884.hp2 |
a0001 | a0001c0005 | a0001c0005t0007a0001c0005t0052 | a0001c0005t0007g0082 a0001c0005t0052g0097 |
2 | 21 | 0.0952 | 22 | c.148 others(39): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 12/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9154093 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01515.hp2 HG02040.hp1 others(4): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0012 | a0001c0002t0022a0001c0002t0047a0001c0002t0050others(4): Show | a0001c0002t0022g0073 a0001c0002t0047g0053 a0001c0002t0050g0013 others(4): Show |
7 | 26 | 0.2692 | 22 | c.148 others(39): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 12/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9154093 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0002 | 1 | 20 | 0.0500 | 22 | c.148 others(39): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 12/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9197728 | T | TTGTATGT others(15): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02735.hp2 NA18964.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009a0001c0002t0050 | a0001c0002t0002g0099 a0001c0002t0009g0002 a0001c0002t0050g0013 |
3 | 57 | 0.0526 | 22 | c.933 others(37): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 9/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9207116 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0101 | 1 | 131 | 0.0076 | 22 | c.647 others(39): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 8/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353096 | A | AAGGAAAG others(15): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0127 | 1 | 50 | 0.0200 | 22 | c.125 others(41): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122907726 | A | AGTGTGTG others(15): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 43 | 0.0233 | 22 | c.*24 others(33): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1355 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122935686 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | HG01515.hp2 HG03239.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0015a0001c0016t0001 | a0001c0001t0015g0008 a0001c0016t0001g0101 |
2 | 16 | 0.1250 | 22 | c.474 others(39): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122935686 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02074.hp2 NA19004.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0079 a0002c0002t0001g0238 a0002c0002t0002g0084 |
3 | 17 | 0.1765 | 22 | c.474 others(39): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
SEMA6D_chr15_47712505_47779228 | 47746984 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01106.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0007a0002c0003t0004a0002c0003t0011others(5): Show | a0001c0001t0007g0120 a0002c0003t0004g0005 a0002c0003t0004g0006 others(16): Show |
20 | 141 | 0.1418 | 22 | c.-54 others(41): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SENP1_chr12_48037897_48111079 | 48078317 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 a0001c0001t0002g0318 a0001c0001t0002g0319 others(2): Show |
5 | 293 | 0.0171 | 22 | c.553 others(39): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 6/17 | chr12 | TogoVar |